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Article

Permanent neonatal diabetes caused by a novel mutation.

Indian pediatrics - 1 Jun 2012

Jain Vandana, Flanagan Sarah E, Ellard Sian

Abstract excerpt

Most cases of permanent form of neonatal diabetes mellitus (PNDM) are due to dominant heterozygous gain of function (activating) mutations in either KCNJ11 or ABCC8 genes, that code for Kir 6.2 and SUR1 subunits, respectively of the pancreatic b cell KATP channel. We describe the interesting case of an infant with PNDM, in whom a compound heterozygous activating/ inactivating mutation was found with clinically...

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Share to ATP-Binding Cassette Transporters
Share to Diabetes Mellitus
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Infant, Newborn, Diseases

Share to Potassium Channels, Inwardly Rectifying

Share to Receptors, Drug

Share to Sulfonylurea Receptors

Source

Identifiers

PMID: 22796691
DOI: 10.1007/s13312-012-0093-6

Genes

ABCC8
KCNJ11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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